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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:vulvar disease
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Accession:DOID:2059 term browser browse the term
Definition:A female reproductive system disease that is located_in the vulva. (DO)
Synonyms:exact_synonym: vulvar diseases
 primary_id: MESH:D014845
 xref: NCI:C27631
For additional species annotation, visit the Alliance of Genome Resources.


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bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
vulva cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 severity ISO associated with Papillomavirus Infections RGD PMID:22685591 RGD:38676500 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:10027405 RGD:2293612 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Nos3 nitric oxide synthase 3 disease_progression ISO DNA:repeat:intron RGD PMID:15196865 RGD:2292078 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human) RGD PMID:12543794 RGD:2314696 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE15 RT1 class I, locus CE15 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2 RGD PMID:12543794 RGD:2314696 NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563
Ensembl chr20:3,264,172...3,279,563 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2 RGD PMID:12543794 RGD:2314696 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DRB1*11,DRB1*01,DRB1*13(human) RGD PMID:12543794 RGD:2314696 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
vulva squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc25a cell division cycle 25A ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Cdc25b cell division cycle 25B disease_progression ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cdc25c cell division cycle 25C disease_progression ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185 		JBrowse link
G Sfn stratifin ISO DNA, mRNA:hypermethylation, decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314 		JBrowse link
Vulvar Lichen Sclerosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17300232 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18076706 RGD:2293866 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:18076706 RGD:2293866 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17300232 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Vulvar Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO protein:increased expression:vulva
associated with Papillomavirus Infections;protein:increased expression:vulva		 RGD PMID:16998595 PMID:18192968 RGD:2289682, RGD:2289673 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression:vulva
associated with Papillomavirus Infections;protein:increased expression:vulva		 RGD PMID:16998595 PMID:18192968 RGD:2289682, RGD:2289673
G Chek2 checkpoint kinase 2 ISO DNA:polymorphism:cds:252A>G RGD PMID:11875739 RGD:2298483 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase disease_progression ISO protein:decreased expression:vulva, squamous epithelial cell RGD PMID:16608079 RGD:2301231 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:vulva RGD PMID:15870899 RGD:2293514 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:vulva RGD PMID:15870899 RGD:2293514 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Tp53 tumor protein p53 ISO
IEP		 protein:increased expression:vulva RGD PMID:16033093 PMID:30514679 RGD:2290537, RGD:14995938 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO mRNA, protein:splice variant, increased expression:vulva RGD PMID:11720444 RGD:2290590 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
Vulvar Vestibulitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO RGD PMID:9015038 RGD:7394738 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:vagina RGD PMID:9015038 RGD:7394738 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
vulvovaginal candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:23853597 RGD:39938863 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr 1:228,016,439...228,024,736 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      reproductive system disease 3178
        female reproductive system disease 2175
          vulvar disease 28
            Pruritus Vulvae 0
            Trichomonas vaginalis trichomoniasis 0
            Vulvar Lichen Sclerosus 4
            Vulvar Neoplasms + 19
            Vulvodynia 0
            atrophic vulva 0
            bowenoid papulosis 2
            ulceration of vulva 0
            vulva fibroepithelial polyp 0
            vulvar dystrophy 0
            vulvitis + 5
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              vulvar disease 28
                Pruritus Vulvae 0
                Trichomonas vaginalis trichomoniasis 0
                Vulvar Lichen Sclerosus 4
                Vulvar Neoplasms + 19
                Vulvodynia 0
                atrophic vulva 0
                bowenoid papulosis 2
                ulceration of vulva 0
                vulva fibroepithelial polyp 0
                vulvar dystrophy 0
                vulvitis + 5
paths to the root